title: Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome.
abstract: Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.
authors.affiliation: Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, California, Keck School of Medicine of University of Southern California, USA.
authors.forename: Jay
authors.initials: J
authors.lastname: Desai
authors.forename: Tena
authors.initials: T
authors.lastname: Rosser
keywords: Cortical malformation; SOX2; anophthalmia